Incidental Mutation 'R0561:Adck1'
ID 45890
Institutional Source Beutler Lab
Gene Symbol Adck1
Ensembl Gene ENSMUSG00000021044
Gene Name aarF domain containing kinase 1
Synonyms 2610005A10Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0561 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 88327324-88428494 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 88335204 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 30 (D30G)
Ref Sequence ENSEMBL: ENSMUSP00000152821 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101165] [ENSMUST00000166940] [ENSMUST00000222695]
AlphaFold Q9D0L4
Predicted Effect possibly damaging
Transcript: ENSMUST00000101165
AA Change: D30G

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000098724
Gene: ENSMUSG00000021044
AA Change: D30G

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
low complexity region 35 48 N/A INTRINSIC
Pfam:ABC1 136 252 1.7e-42 PFAM
Pfam:Pkinase 150 348 1.3e-5 PFAM
low complexity region 498 508 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000166940
AA Change: D30G

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000127254
Gene: ENSMUSG00000021044
AA Change: D30G

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
low complexity region 35 48 N/A INTRINSIC
Pfam:ABC1 136 252 2.2e-42 PFAM
Pfam:Pkinase 150 357 6.2e-6 PFAM
low complexity region 498 508 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221603
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221630
Predicted Effect possibly damaging
Transcript: ENSMUST00000222695
AA Change: D30G

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.6%
Validation Efficiency
Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apc A T 18: 34,446,356 (GRCm39) H1050L possibly damaging Het
Armc2 A G 10: 41,869,188 (GRCm39) V166A probably benign Het
Atp6v1b1 A T 6: 83,730,793 (GRCm39) I173F probably damaging Het
Bpifb4 A G 2: 153,786,742 (GRCm39) D298G probably damaging Het
C4b T A 17: 34,953,391 (GRCm39) S1031C probably damaging Het
Calcr A G 6: 3,692,630 (GRCm39) I408T probably damaging Het
Catsperg1 T C 7: 28,881,737 (GRCm39) N1009S probably damaging Het
Ces2a T C 8: 105,464,165 (GRCm39) S266P probably benign Het
Chrna1 A G 2: 73,396,596 (GRCm39) V433A possibly damaging Het
Ctnnb1 G A 9: 120,780,788 (GRCm39) V291M probably damaging Het
Dcbld1 T C 10: 52,138,032 (GRCm39) Y99H probably benign Het
Ddx60 A T 8: 62,470,828 (GRCm39) H1440L possibly damaging Het
Dsg1c A T 18: 20,407,832 (GRCm39) I393L probably benign Het
Eif5 G T 12: 111,506,950 (GRCm39) R128L probably benign Het
Ercc3 A G 18: 32,378,592 (GRCm39) D191G possibly damaging Het
Gp1ba A T 11: 70,530,416 (GRCm39) probably benign Het
Krt24 C T 11: 99,175,439 (GRCm39) E199K probably damaging Het
Lrif1 G T 3: 106,639,481 (GRCm39) A164S probably damaging Het
Map2 A G 1: 66,464,656 (GRCm39) D1682G probably damaging Het
Megf8 C T 7: 25,028,257 (GRCm39) P274S probably benign Het
Mslnl C T 17: 25,962,177 (GRCm39) Q192* probably null Het
Nfkb2 T C 19: 46,298,301 (GRCm39) V535A possibly damaging Het
Or10q1 A T 19: 13,726,662 (GRCm39) Y64F probably damaging Het
Or4a66 A G 2: 88,530,914 (GRCm39) I253T possibly damaging Het
Or4c11 T A 2: 88,695,024 (GRCm39) V25E possibly damaging Het
Or7a37 T A 10: 78,805,729 (GRCm39) L82* probably null Het
Or8b37 G T 9: 37,959,123 (GRCm39) V202L probably benign Het
Or8g22 C T 9: 38,958,669 (GRCm39) M15I probably damaging Het
Pag1 T A 3: 9,764,481 (GRCm39) Y224F probably damaging Het
Pbrm1 A C 14: 30,757,948 (GRCm39) I193L probably benign Het
Phrf1 T C 7: 140,834,876 (GRCm39) V17A probably benign Het
Plekhg2 T G 7: 28,069,908 (GRCm39) T42P probably benign Het
Pmp22 T A 11: 63,025,250 (GRCm39) W28R probably damaging Het
Ppp1r13b A T 12: 111,832,880 (GRCm39) H82Q probably damaging Het
Rgs8 T C 1: 153,541,668 (GRCm39) probably null Het
Rtl1 A G 12: 109,560,363 (GRCm39) V492A probably damaging Het
Slc22a27 A G 19: 7,857,527 (GRCm39) probably null Het
Slx4ip A G 2: 136,908,090 (GRCm39) E79G probably null Het
Syde1 C T 10: 78,425,210 (GRCm39) R267H probably damaging Het
Tas2r114 A G 6: 131,666,758 (GRCm39) I90T probably benign Het
Tjp3 C T 10: 81,109,674 (GRCm39) G843D probably benign Het
Tln1 A T 4: 43,550,304 (GRCm39) M453K possibly damaging Het
Ttc39a A T 4: 109,297,799 (GRCm39) Y408F probably damaging Het
Usp39 T G 6: 72,313,368 (GRCm39) Q274P probably damaging Het
Uvrag C T 7: 98,537,768 (GRCm39) V476I probably damaging Het
Vcan T A 13: 89,860,372 (GRCm39) T332S probably damaging Het
Vcan T A 13: 89,879,583 (GRCm39) H22L possibly damaging Het
Wls A G 3: 159,578,705 (GRCm39) D89G probably benign Het
Zfhx2 A T 14: 55,303,346 (GRCm39) V1546E probably benign Het
Zfp457 T A 13: 67,442,134 (GRCm39) H147L probably damaging Het
Other mutations in Adck1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00501:Adck1 APN 12 88,335,192 (GRCm39) missense probably benign 0.00
IGL00822:Adck1 APN 12 88,422,286 (GRCm39) missense probably damaging 0.99
IGL01370:Adck1 APN 12 88,423,503 (GRCm39) splice site probably benign
IGL01480:Adck1 APN 12 88,423,635 (GRCm39) nonsense probably null
IGL01994:Adck1 APN 12 88,397,926 (GRCm39) missense possibly damaging 0.50
IGL02089:Adck1 APN 12 88,413,480 (GRCm39) missense probably damaging 0.96
IGL03058:Adck1 APN 12 88,425,900 (GRCm39) missense probably benign
IGL03196:Adck1 APN 12 88,397,885 (GRCm39) missense probably damaging 1.00
IGL03307:Adck1 APN 12 88,425,823 (GRCm39) missense possibly damaging 0.94
full-figured UTSW 12 88,407,887 (GRCm39) missense possibly damaging 0.63
0152:Adck1 UTSW 12 88,397,921 (GRCm39) missense probably benign 0.03
R0107:Adck1 UTSW 12 88,413,426 (GRCm39) missense possibly damaging 0.62
R0164:Adck1 UTSW 12 88,422,280 (GRCm39) missense probably damaging 0.99
R0164:Adck1 UTSW 12 88,422,280 (GRCm39) missense probably damaging 0.99
R0179:Adck1 UTSW 12 88,425,942 (GRCm39) missense possibly damaging 0.91
R0505:Adck1 UTSW 12 88,338,461 (GRCm39) splice site probably benign
R0831:Adck1 UTSW 12 88,335,118 (GRCm39) start codon destroyed probably null 1.00
R1005:Adck1 UTSW 12 88,368,872 (GRCm39) missense probably damaging 0.98
R1524:Adck1 UTSW 12 88,368,854 (GRCm39) missense probably damaging 1.00
R2016:Adck1 UTSW 12 88,427,862 (GRCm39) missense probably damaging 1.00
R4438:Adck1 UTSW 12 88,397,920 (GRCm39) nonsense probably null
R4745:Adck1 UTSW 12 88,368,949 (GRCm39) splice site probably null
R4827:Adck1 UTSW 12 88,413,489 (GRCm39) missense probably benign 0.06
R4859:Adck1 UTSW 12 88,407,865 (GRCm39) missense probably benign 0.02
R4885:Adck1 UTSW 12 88,407,865 (GRCm39) missense probably benign 0.02
R4921:Adck1 UTSW 12 88,407,908 (GRCm39) missense probably benign 0.10
R5383:Adck1 UTSW 12 88,422,373 (GRCm39) missense probably benign 0.04
R5958:Adck1 UTSW 12 88,425,822 (GRCm39) missense probably benign 0.33
R6028:Adck1 UTSW 12 88,368,902 (GRCm39) missense probably benign
R6199:Adck1 UTSW 12 88,407,887 (GRCm39) missense possibly damaging 0.63
R6317:Adck1 UTSW 12 88,368,921 (GRCm39) missense probably damaging 1.00
R6616:Adck1 UTSW 12 88,427,958 (GRCm39) missense unknown
R6715:Adck1 UTSW 12 88,425,850 (GRCm39) missense probably damaging 1.00
R6915:Adck1 UTSW 12 88,422,390 (GRCm39) missense probably damaging 1.00
R7295:Adck1 UTSW 12 88,397,815 (GRCm39) missense probably damaging 1.00
R7387:Adck1 UTSW 12 88,427,822 (GRCm39) missense probably benign
R7520:Adck1 UTSW 12 88,425,975 (GRCm39) critical splice donor site probably null
R7562:Adck1 UTSW 12 88,335,203 (GRCm39) missense possibly damaging 0.77
R7745:Adck1 UTSW 12 88,423,570 (GRCm39) missense probably benign
R7759:Adck1 UTSW 12 88,368,887 (GRCm39) missense possibly damaging 0.65
R8092:Adck1 UTSW 12 88,427,831 (GRCm39) missense possibly damaging 0.68
R8336:Adck1 UTSW 12 88,335,249 (GRCm39) missense probably damaging 1.00
R9145:Adck1 UTSW 12 88,335,193 (GRCm39) missense probably benign 0.00
R9443:Adck1 UTSW 12 88,338,550 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- GCACCCTTTCCTATCTAAAGGCACC -3'
(R):5'- AGAGCTGACATGCCTGCATTTCG -3'

Sequencing Primer
(F):5'- tctctttgcttctctgccac -3'
(R):5'- TCGATATATGTGAGCACGCC -3'
Posted On 2013-06-11